MEND syndrome
MONDO:0010498Mondo
Findings
No curated finding names MEND syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Anterior polar cataractHPOHP:0001134
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Crossed fused renal ectopiaHPOHP:0004736
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Long neckHPOHP:0000472
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Macular hypoplasiaHPOHP:0001104
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Narrow palpebral fissureHPOHP:0045025
- 1 of 1 reported patient
Show the remaining 47
- Overfolded helixHPOHP:0000396
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Redundant neck skinHPOHP:0005989
- 1 of 1 reported patient
- Sacral dimpleHPOHP:0000960
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Small anterior fontanelleHPOHP:0000237
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EBPHGNC:3133
- Definitive · ClinGen · X-linked · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: MEND syndrome
- Also called
- Male EBP disorder with neurological defectsMEND syndrome, X-linked recessive